Clinical Characteristics and Thoracic factors in patients with Idiopathic and Syndromic Scoliosis Associated with Pectus Excavatum.

Introduction: The purpose of this study is to demonstrate the clinical characteristics and thoracic factors such as sternal tilt angle and Haller index in patients with idiopathic or syndromic scoliosis associated with pectus excavatum.

Methods: We performed a retrospective review on a cohort of 70 patients (37 males and 33 females) diagnosed with idiopathic and syndromic scoliosis associated with pectus excavatum between 1985 and 2014. We investigated age, location and Cobb angle of the main curve, and thoracic factors including sternal deviation and tilting angle and Haller index using radiographs and computed tomography of the chest.

Corrective surgery for kyphosis in a case of Gaucher's disease without history of vertebral compression fractures.

Introduction: Gaucher's disease is a congenital metabolic disorder characterized by the accumulation of glucocerebroside in the reticuloendothelial system. Its clinical manifestations include splenomegaly, osteopenia, and pathological fractures. Cases of patients with kyphotic deformities caused by pathological vertebral compression fractures associated with Gaucher's disease are well reported.

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affecting millions of children. Since treatment and prognosis of AIS depend on curve progression, identifying factors related to AIS curve progression is important in its management. Although several genetic loci for AIS occurrence are reported, no locus for curve progression has been identified.

Response to Lefebvre et al.

Congenital scoliosis (CS) is a common vertebral malformation with incidence of up to 1 of 1000 births worldwide. Recently, TBX6 has been reported as the first disease gene for CS: about 10% of CS patients are compound heterozygotes of rare null mutations and a common haplotype composed by 3 SNPs in TBX6. Lefebvre et al in this journal reported that 2 patients with spondylocostal dysostosis (SCD), a rare skeletal dysplasia affecting spine and ribs also have TBX6 mutations: 1 carried the microdeletion and a rare missense variant, and another 2 rare missense variants.

A Replication Study for the Association of rs11190870 With Curve Severity in Adolescent Idiopathic Scoliosis in Japanese.

Study Design: Case-only study.

Objective: The aim of this study was to confirm the association of rs11190870 with adolescent idiopathic scoliosis (AIS) severity in Japanese patients with AIS.

Summary Of Background Data: Although the association of rs11190870 with AIS susceptibility is replicated in multiple ethnics, the association of rs11190870 with curve severity is controversial.

Intervertebral Disc Degeneration During Postoperative Follow-up More Than 10 Years After Corrective Surgery in Idiopathic Scoliosis: Comparison Between Patients With and Without Surgery.

Study Design: A retrospective comparative study.

Objective: The aim of this study was to evaluate the difference in trends of disc degeneration (DD) at lower unfused segments (LUS) for postoperative patients who have gone through spinal instrumentation at 10-year follow-up with the natural progression of idiopathic scoliosis.

Summary Of Background Data: Studies that used magnetic resonance imaging (MRI) state that DD rates at LUS are higher than in the normal population.

Proximal Junctional Kyphosis Following Posterior Hemivertebra Resection and Short Fusion in Children Younger Than 10 Years.

Study Design: A retrospective study.

Objective: To investigate whether proximal junctional kyphosis (PJK) or obvious proximal junctional angle (PJA) changes in the sagittal plane develops following short fusion in children younger than 10 years of age with congenital scoliosis, and to investigate the possible risk factors.

Summary Of Background Data: PJK following long spinal fusion in adolescents and adults is a serious postoperative complication.

Complications Associated With Lateral Interbody Fusion: Nationwide Survey of 2998 Cases During the First 2 Years of Its Use in Japan.

Study Design: Retrospective nationwide questionnaire-based survey of complications.

Objective: To elucidate the incidence of complications and risk factors associated with lateral interbody fusion (LIF).

Summary Of Background Data: After its introduction to Japan in February 2013, the numbers of LIF cases have increased substantially because of the advantages of this minimally invasive procedure.

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.

Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.

Clinical and Radiographical Differences Between Thoracic Idiopathic Spinal Cord Herniation and Spinal Arachnoid Cyst.

Study Design: A retrospective, multicenter, case-controlled study.

Objective: The aim of this study was to investigate the clinical and radiographical differences between thoracic idiopathic spinal cord herniation (ISCH) and spinal arachnoid cyst (SAC).

Summary Of Background Data: ISCH and SAC are relatively rare diseases.

A Japanese nationwide multicenter survey on perioperative complications of corrective fusion for elderly patients with adult spinal deformity.

Background: Recently, corrective fusion surgery for patients with adult spinal deformity (ASD) has become common in Japan. This study aimed to clarify the status of surgeries for ASD in Japan, focusing on perioperative complications. A nationwide multicenter survey gathering information on surgically treated ASD patients was conducted by the committee for Adult Spinal Deformity of the Japanese Scoliosis Society.

Radiographic Adjacent Segment Degeneration at 5 Years After L4/5 Posterior Lumbar Interbody Fusion With Pedicle Screw Instrumentation: Evaluation by Computed Tomography and Annual Screening With Magnetic Resonance Imaging.

Study Design: Retrospective clinical study.

Objective: To investigate adjacent segment degeneration (ASD) at 5 years after L4/5 posterior lumbar interbody fusion with pedicle screw instrumentation and L4/5 decompression surgery using plain radiographs, computed tomography (CT), and magnetic resonance imaging (MRI), with the evaluation of annual changes on MRI.

Summary Of Background Data: Methods of evaluation have been inconsistent among studies of ASD.

Factors associated with spinal fusion after posterior fossa decompression in pediatric patients with Chiari I malformation and scoliosis.

OBJECTIVE The authors performed a study to identify clinical characteristics of pediatric patients diagnosed with Chiari I malformation and scoliosis associated with a need for spinal fusion after posterior fossa decompression when managing the scoliotic curve. METHODS The authors conducted a multicenter retrospective review of 44 patients, aged 18 years or younger, diagnosed with Chiari I malformation and scoliosis who underwent posterior fossa decompression from 2000 to 2010. The outcome of interest was the need for spinal fusion after decompression.

Evaluation of thoracic factors after scoliosis surgery in patients with both scoliosis and pectus excavatum.

Purpose: Pectus excavatum can negatively impact cardiac function during scoliosis surgery. Several authors reported severe hypotension associated with the prone position during scoliosis surgery in children that had both scoliosis and pectus excavatum. However, we could find no studies that evaluated the change in the thoracic factors, such as sternal tilt angle and Haller index after scoliosis surgery in patients with both scoliosis and pectus excavatum.

Three-Dimensional Analysis of Hemimetameric Segmental Shift in Congenital Scoliosis.

Study Design: This is a retrospective cohort study.

Background: Hemimetameric segmental shift (HMMS) is defined as a hemivertebral deformation in which 2 or more hemivertebrae exist on both sides of the spine and are separated by at least 1 normal vertebra. Reports of HMMS are rare and based on simple anterior x-ray images.

Influence of the Number of Cervical Fusion Levels on Cervical Spine Motion and Health-Related Quality of Life.

Study Design: A retrospective study.

Objective: To analyze the influence of the number of cervical fusion levels on total cervical motion and health-related quality of life (HRQoL) in patients with solid anterior cervical fusions (ACFs).

Summary Of Background Data: Few studies have analyzed the degree to which cervical range of motion (ROM) and HRQoL are affected by the number of cervical fusion segments.

Long-term survival in low-grade endometrial stromal sarcoma with childbirth and multidisciplinary treatment: a case report.

Introduction: Low-grade endometrial stromal sarcoma is very rare and difficult to diagnose in the early stage. A standard treatment has not been established. In this case report of a patient with long-term survival, we describe an effective treatment for advanced low-grade endometrial stromal sarcoma.

Spinal fusion as a viable treatment option for scoliosis management in Pompe disease: a postoperative 3-year follow-up.

Purpose: This study presents 3-year postoperative outcomes of posterior spinal correction and fusion of a patient diagnosed with late-onset Pompe disease (PD) for his progressive scoliosis.

Methods: The patient was diagnosed for PD during his infancy. Enzyme replacement therapy (ERT) was initiated at the age of 13.

Reliability analysis of Cobb angle measurements of congenital scoliosis using X-ray and 3D-CT images.

Purpose: Therapeutic decisions for congenital scoliosis rely on Cobb angle measurements on consecutive radiographs. There have been no studies documenting the variability of measuring the Cobb angle using 3D-CT images in children with congenital scoliosis. The purpose of this study was to compare the reliability and measurement errors using X-ray images and those utilizing 3D-CT images.

The Effects of Spinal Fusion on Lumbar Disc Degeneration in Patients with Adolescent Idiopathic Scoliosis: A Minimum 10-Year Follow-Up.

Study Design: Retrospective study.

Objectives: This study focused on patients with adolescent idiopathic scoliosis (AIS) who were followed up for more than 10 years, and assessed the influence of spinal balance on lumbar degenerative changes at distal unfused segments (DUS).

Summary Of Background Data: Previous studies suggested that longer fusion segments may result in higher rates of occurrence of disc degeneration (DD) at unfused segments adjacent to the distal fused area.

Comparison of Surgical Outcomes Between Anterior Fusion and Posterior Fusion in Patients With AIS Lenke Type 1 or 2 that Underwent Selective Thoracic Fusion -Long-term Follow-up Study Longer Than 10 Postoperative Years.

Study Design: A retrospective comparative study.

Objective: We compared the outcomes between patients treated either by selective thoracic anterior (ASF) or posterior spinal fusion (PSF), with a minimum 10-year follow-up.

Summary Of Background Data: A retrospective long-term follow-up study was conducted to compare PSF (P group) and ASF (A group) with Lenke type 1 or 2.

A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity. We previously conducted a genome-wide association study (GWAS) and detected two loci associated with AIS. To identify additional loci, we extended our GWAS by increasing the number of cohorts (2,109 affected subjects and 11,140 control subjects in total) and conducting a whole-genome imputation.

Adjacent Segment Disease After Posterior Lumbar Interbody Fusion: Based on Cases With a Minimum of 10 Years of Follow-up.

Study Design: Retrospective case-controlled study.

Objective: To investigate the incidence of adjacent segment degeneration (ASD) and the associated risk factors during a period of at least 10 years after posterior lumbar interbody fusion (PLIF).

Summary Of Background Data: ASD is a problematic sequelae after spinal fusion surgery.

A comprehensive expression analysis of mucins in appendiceal carcinoma in a multicenter study: MUC3 is a novel prognostic factor.

Background: Mucins are implicated in survival in various cancers, but there have been no report addressed on survival in appendiceal carcinoma, an uncommon disease with different clinical and pathological features from those of other colon cancers. We aimed to investigate the clinical implications of expression of mucins in appendiceal carcinoma.

Methods: Expression profiles of MUC1, MUC2, MUC3, MUC4, MUC5AC, MUC6, MUC16 and MUC17 in cancer tissue were examined by immunohistochemistry in 108 cases of surgically resected appendiceal carcinoma.

Risk Factors for Proximal Junctional Kyphosis Associated With Dual-rod Growing-rod Surgery for Early-onset Scoliosis.

Study Design: A retrospective, multicenter study.

Objective: To identify risk factors for proximal junctional kyphosis (PJK) when treating early-onset scoliosis (EOS) with dual-rod growing-rod (GR) procedure.

Summary Of Background Data: The risk factors for PJK associated with GR treatment for EOS have not been adequately studied.